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A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

Consider NF1 in newborns with rare congenital anomalies.

Scalp skin condition LEDS has similar features to Zoon's balanitis, a mucosal skin disorder.

Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.

Controlling Tslp can improve health in AEC syndrome patients.

A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.

CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.

The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.

VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.

The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.

Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.

Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.

Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.

Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.

Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.

Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.

A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.

Understanding genetics is crucial for treating heart and skin diseases.

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

Trichoscopy can help diagnose early congenital syphilis in newborns.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

Understanding how EDC genes are regulated can help develop better drugs for skin diseases.

A mutation in the KRT86 gene causes hair fragility in a Turkish family.